Metabolism of sulfur amino acids is intertwined with metabolism and transport of folates and several B-vitamins. This course will give an overview of sulfur amino acids metabolism and of related sulfur containing compounds and its dependence on functional B-vitamin processing. Further topics will include detailed description of inborn errors of metabolism of sulfur amino acids and B-vitamins, association of B-vitamin disturbances with common disorders, diagnostic algorithms for hyperhomocysteinemias and methylation disorders including new-born screening strategies.
The organizers and faculty will strongly support discussion about cases presented by the course participants.
LEARNING OBJECTIVES
- Understanding the elements and interactions in the methylation, transsulfuration and remethylation pathways.
- Understanding metabolism of related B-vitamins.
- Knowledge on frequency, pathophysiology, clinical manifestation, diagnosis and treatment of homocystinurias, methylation defects and genetic disorders of B-vitamin metabolism.
- Insight into the role of B-vitamins in common disorders.
- Insight into the principles and efficacy of new-born screening programs, and knowledge on efficacy of early intervention.
- Familiarizing with practical issues in diagnosing and treating patients with CBS deficiency and remethylation disorders.
PROVIDER ORGANISATION
- Charles University in Prague-First Faculty of Medicine and General University Hospital, Institute of Inherited Metabolic Disorders
- Albert-Ludwigs University Freiburg
Scientifc Organising Committee
- Prof. Henk Blom, Albert-Ludwigs- University Freiburg, Freiburg, Germany
- Prof. Brian Fowler, Childrens´University Hospital, Zürich, Switzerland
- Prof. Martina Huemer, Childrens´University Hospital, Zürich, Switzerland
- Prof. Stefan Kölker, University Childrens´ Hospital, Heidelberg, Germany
- Prof. Viktor Kožich, Charles University in Prague-First Faculty of Medicine, Prague, Czech Republic
Contact RRD Foundation
Cecilia Kellquist
Recordati Rare Diseases Fondation d'entreprise
Immeuble ‘Le Wilson’
70 avenue du Général de Gaulle
92800 PUTEAUX, France
Telephone : +33 1 47 73 86 11
Fax : +33 1 49 00 18 00
Email : ckellquist@rrd-foundation.org